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000172524 1001_ $$aEscala-Garcia, Maria$$b0
000172524 245__ $$aGermline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
000172524 260__ $$a[London]$$bMacmillan Publishers Limited, part of Springer Nature$$c2021
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000172524 520__ $$aBreast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10-8 and 4.42 × 10-8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.
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000172524 7001_ $$aPark-Simon, Tjoung-Won$$b71
000172524 7001_ $$aPatel, Alpa V$$b72
000172524 7001_ $$aPeterlongo, Paolo$$b73
000172524 7001_ $$aPharoah, Paul D P$$b74
000172524 7001_ $$aPunie, Kevin$$b75
000172524 7001_ $$aRadice, Paolo$$b76
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000172524 7001_ $$aRomero, Atocha$$b79
000172524 7001_ $$aRoylance, Rebecca$$b80
000172524 7001_ $$aRüdiger, Thomas$$b81
000172524 7001_ $$aRuebner, Matthias$$b82
000172524 7001_ $$aSaloustros, Emmanouil$$b83
000172524 7001_ $$aSawyer, Elinor J$$b84
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